Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Thyroid hypoplasia
Synonyms
Definitions

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

ID

http://www.orpha.net/ORDO/Orphanet_95720

definition

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95720

has_age_of_onset

Infancy

Neonatal

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

OMIM:225250

ICD-10:E03.1

OMIM:218700

UMLS:C0151516

MedDRA:10065938

ICD-11:5A00.01

label

Thyroid hypoplasia

notation

ORPHA:95720

part_of

http://www.orpha.net/ORDO/Orphanet_95711

http://www.orpha.net/ORDO/Orphanet_95718

prefixIRI

ORDO:Orphanet_95720

prefLabel

Thyroid hypoplasia

present_in

Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_95711

http://www.orpha.net/ORDO/Orphanet_95718

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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